Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing.

abstract：:Mice carrying the autosomal recessive rd gene experience total degeneration of the photoreceptor cells of the retina by 3 to 4 weeks of life. Biochemical studies of the rd retina have demonstrated a lesion in cyclic guanosine monophosphate (cGMP) metabolism due to depressed rod-specific cGMP-phosphodiesterase (cGMP-PD...

journal_title：Genomics

authors： Danciger M,Kozak CA,Farber DB

更新日期：1989-02-01 00:00:00

abstract：:Expressed sequence tags (ESTs) have been obtained from several hundred brain cDNAs as an initial effort to characterize expressed brain genes. These ESTs will become tools for human genome mapping and they will also provide candidate causative genes for inherited disorders affecting the central nervous system. We have...

journal_title：Genomics

authors： Polymeropoulos MH,Xiao H,Glodek A,Gorski M,Adams MD,Moreno RF,Fitzgerald MG,Venter JC,Merril CR

更新日期：1992-03-01 00:00:00

abstract：:Williams syndrome (WS) is a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Hemizygosity of the elastin (ELN) gene can account for the vascular and connective tissue abnormalities observed in WS patients, but the genes that contribute to features such as infantile hypercalcemi...

journal_title：Genomics

authors： Osborne LR,Martindale D,Scherer SW,Shi XM,Huizenga J,Heng HH,Costa T,Pober B,Lew L,Brinkman J,Rommens J,Koop B,Tsui LC

更新日期：1996-09-01 00:00:00

abstract：:One of the most critical periods of embryonic loss in pig is day 12 of pregnancy, when implantation begins. Here, we analyzed the gene expression on day 12 of pregnancy and non-pregnancy in the porcine endometrium using RNA sequencing (RNA-seq). 237 mRNAs, 34 lncRNAs and 1 miRNA were significantly differentially expre...

journal_title：Genomics

authors： Wang Y,Hu T,Wu L,Liu X,Xue S,Lei M

更新日期：2017-01-01 00:00:00

abstract：:DNA 5' to the human myelin basic protein (MBP) gene, mapped to 18q22----qter, is known to manifest multiallelic DNA length variation with heterozygosity of at least 45%. Isolation of genomic DNA containing the MBP gene first exon and its 5' flanking region reveals that this polymorphism arises from a 994-bp region of ...

journal_title：Genomics

authors： Boylan KB,Ayres TM,Popko B,Takahashi N,Hood LE,Prusiner SB

更新日期：1990-01-01 00:00:00

abstract：:Because of the conservation of the ubiquitin coding sequence and the number of transcriptionally active genes and reverse-transcribed pseudogenes, it has not been possible to use ubiquitin cDNA clones to map the functional ubiquitin genes. The UBB and UBC polyubiquitin genes have previously been mapped by the use of s...

journal_title：Genomics

authors： Webb GC,Baker RT,Coggan M,Board PG

更新日期：1994-02-01 00:00:00

abstract：:The chromosomal locations and the tissue expression patterns of the human transcriptional adaptors TADA2L and GCN5L2 have been determined. Northern blot analysis across a range of human tissues revealed that both the TADA2L and the GCN5L2 mRNAs are expressed to varying degrees in all tissue types. Furthermore, in most...

journal_title：Genomics

authors： Carter KC,Wang L,Shell BK,Zamir I,Berger SL,Moore PA

更新日期：1997-03-15 00:00:00

abstract：:We describe here a new type of X-linked liver glycogen storage disease. The main symptoms include liver enlargement and growth retardation. The clinical and biochemical abnormalities of this glycogenosis are similar to those of classical X-linked liver glycogenosis due to phosphorylase kinase deficiency (XLG). However...

journal_title：Genomics

authors： Hendrickx J,Coucke P,Hors-Cayla MC,Smit GP,Shin YS,Deutsch J,Smeitink J,Berger R,Lee P,Fernandes J

更新日期：1994-06-01 00:00:00

abstract：:Class III myosins are actin-based motors with amino-terminal kinase domains. Expression of these motors is highly enhanced in retinal photoreceptors. As mutations in the gene encoding NINAC, a Drosophila melanogaster class III myosin, cause retinal degeneration, human homologs of this gene are potential candidates for...

journal_title：Genomics

authors： Dosé AC,Burnside B

更新日期：2002-05-01 00:00:00

abstract：:Friedreich ataxia results from frataxin insufficiency caused by repeat expansion in intron 1 of the frataxin gene. Since the coding sequence is unchanged, the potential exists to ameliorate symptoms by increasing frataxin promoter activity. We therefore defined the minimal frataxin promoter in humans. Despite the fact...

journal_title：Genomics

authors： Greene E,Entezam A,Kumari D,Usdin K

更新日期：2005-02-01 00:00:00

abstract：:Interspecific somatic cell hybrids containing single human chromosomes are valuable reagents for localization of cloned genes and DNA fragments to specific chromosomes, for the development of chromosome-specific libraries, and for generation of hybrid cell lines containing subchromosomal regions. A CHO somatic cell hy...

journal_title：Genomics

authors： Mares A Jr,Ledbetter SA,Ledbetter DH,Roberts R,Hejtmancik JF

更新日期：1991-09-01 00:00:00

abstract：:Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous disorder characterized by progressive spasticity of the lower limbs. A major locus (SPG4) causing AD-HSP in about 40% of the families was mapped to chromosome 2p. The analysis of six SPG4-linked AD-HSP families using the RED proce...

journal_title：Genomics

authors： Hazan J,Davoine CS,Mavel D,Fonknechten N,Paternotte C,Fizames C,Cruaud C,Samson D,Muselet D,Vega-Czarny N,Brice A,Gyapay G,Heilig R,Fontaine B,Weissenbach J

更新日期：1999-09-15 00:00:00

abstract：:FISH techniques have opened new possibilities for high-resolution genome mapping. Effective utilization of these techniques for the rapid orientation and ordering of adjacent and overlapping probes as well as for the characterization of long-range genomic contigs would facilitate physical mapping and positional clonin...

journal_title：Genomics

authors： Heiskanen M,Hellsten E,Kallioniemi OP,Mäkelä TP,Alitalo K,Peltonen L,Palotie A

更新日期：1995-11-01 00:00:00

abstract：:Inborn errors of mitochondrial beta-oxidation cause ectopic fat accumulation, particularly in the liver. Fatty liver is associated with insulin resistance and predisposes to hepatic fibrosis. The factors underlying the pathophysiological consequences of hepatic fat accumulation have remained poorly defined. Gene expre...

journal_title：Genomics

authors： van der Leij FR,Bloks VW,Grefhorst A,Hoekstra J,Gerding A,Kooi K,Gerbens F,te Meerman G,Kuipers F

更新日期：2007-12-01 00:00:00

abstract：:The ky mouse mutant, kyphoscoliosis, exhibits a degenerative muscle disease resulting in chronic deformation of the spinal column. Using an interspecific backcross segregating the ky mutation, we have mapped the ky locus to a small region of mouse chromosome 9. ky is nonrecombinant with the microsatellites D9Mit24 and...

journal_title：Genomics

authors： Skynner MJ,Gangadharan U,Coulton GR,Mason RM,Nikitopoulou A,Brown SD,Blanco G

更新日期：1995-01-01 00:00:00

abstract：:The proximal albino deletions identify several functional regions on mouse Chromosome 7 critical for differentiation of mesoderm (mesd), development of the hypothalamus neuroendocrine lineage (nelg), and function of the liver (hsdr1). Using comparative mapping and genomic sequence analysis, we have identified four nov...

journal_title：Genomics

authors： Wines ME,Lee L,Katari MS,Zhang L,DeRossi C,Shi Y,Perkins S,Feldman M,McCombie WR,Holdener BC

更新日期：2001-02-15 00:00:00

abstract：:Childhood-onset asthma is frequently found in association with atopy. Although asthmatic children may develop IgE antibodies against variety of allergens, asthma is associated primarily with allergy to house-dust mites, molds, or other allergens. In this study, we conducted a genome-wide linkage search in 47 Japanese ...

journal_title：Genomics

authors： Yokouchi Y,Nukaga Y,Shibasaki M,Noguchi E,Kimura K,Ito S,Nishihara M,Yamakawa-Kobayashi K,Takeda K,Imoto N,Ichikawa K,Matsui A,Hamaguchi H,Arinami T

更新日期：2000-06-01 00:00:00

abstract：:One hundred forty-nine chromosome 15 loci were mapped by PCR with respect to chromosome breakpoints in three somatic cell hybrids retaining total or part of chromosome 15 and to a 10-Mb YAC contig. This chromosome was subdivided into 5 regions, yielding an average resolution of more than 1 sequence tagged site per meg...

journal_title：Genomics

authors： Richard I,Broux O,Chiannilkulchai N,Fougerousse F,Allamand V,Bourg N,Brenguier L,Devaud C,Pasturaud P,Roudaut C

更新日期：1994-10-01 00:00:00

abstract：:Isochromosome 17q has previously been observed consistently in cytogenetic studies of medulloblastoma, the most common posterior fossa neoplasm in children. We performed a restriction fragment length polymorphism (RFLP) investigation of medulloblastoma which showed a loss of chromosome 17p sequences in 45% of these tu...

journal_title：Genomics

authors： Cogen PH,Daneshvar L,Metzger AK,Edwards MS

更新日期：1990-10-01 00:00:00

abstract：:The field of molecular evolution started with the alignment of a few protein sequences in the early 1960s. Among the first results found, the genetic equidistance result has turned out to be the most unexpected. It directly inspired the ad hoc universal molecular clock hypothesis that in turn inspired the neutral theo...

journal_title：Genomics

authors： Luo D,Huang S

更新日期：2016-07-01 00:00:00

abstract：:Overlapping DNA fragments spanning approximately 21 kb of genomic DNA and encompassing the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) have been cloned by screening a human leukocyte genomic library and by PCR amplification of human fibroblastic DNA. A continuous gene sequence of 20,890 nucleotides was establ...

journal_title：Genomics

authors： Rüetschi U,Rymo L,Lindstedt S

更新日期：1997-09-15 00:00:00

abstract：:The EWS gene has been identified based on its location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation that characterizes Ewing sarcoma and related neuroectodermal tumors. The EWS gene spans about 40 kb of DNA and is encoded by 17 exons. The nucleotide sequence of the exons is identical to that ...

journal_title：Genomics

authors： Plougastel B,Zucman J,Peter M,Thomas G,Delattre O

更新日期：1993-12-01 00:00:00

abstract：:Spatiotemporal expression of the PAX3 gene is tightly regulated during development. We have isolated and sequenced the 5'-flanking regulatory region of human PAX3. Primer extension and ribonuclease protection mapping revealed that transcription is initiated from a single start site downstream of a TATA-like motif in h...

journal_title：Genomics

authors： Okladnova O,Syagailo YV,Tranitz M,Riederer P,Stöber G,Mössner R,Lesch KP

更新日期：1999-04-01 00:00:00

abstract：:To study the function of the B cell signal transduction molecule alpha 4 (IGBP1), we isolated a human alpha 4 (IGBP1) gene that has sequence similarity to the yeast protein (TAP42) involved in the rapamycin-sensitive signal transduction pathway. The human alpha 4 has sequence identities with murine alpha 4 of 83.4% nu...

journal_title：Genomics

authors： Onda M,Inui S,Maeda K,Suzuki M,Takahashi E,Sakaguchi N

更新日期：1997-12-15 00:00:00

abstract：:Of 311 expressed sequenced tags (ESTs) mapped to single human chromosomes by analysis of a monochromosome somatic cell hybrid panel, 29 were localized to chromosome 3. Analysis of somatic cell hybrid lines containing different regions of chromosome 3 has enabled the regional assignment of these 29 ESTs to 13 of 23 int...

journal_title：Genomics

authors： Jones MH,Tirosvoutis KN,Bowgen C,Davey P,Moore S,Naylor S,Affara NA

更新日期：1998-11-01 00:00:00

abstract：:A new member of the insulin gene superfamily (INSL5) was identified by searching EST databases for the presence of the conserved insulin B-chain cysteine motif. Human and murine INSL5 are both polypeptides of 135 amino acids, matching the classical signature of the insulin superfamily. Through the B- and A-chain regio...

journal_title：Genomics

authors： Conklin D,Lofton-Day CE,Haldeman BA,Ching A,Whitmore TE,Lok S,Jaspers S

更新日期：1999-08-15 00:00:00

abstract：:We employed cDNA representational difference analysis (RDA) with human-mouse somatic hybrid cells containing human chromosome 17 and obtained several cDNA clones specific for this chromosome. A cDNA library from PHA-stimulated T cells was screened with unknown cDNA clones obtained by RDA as probes. Subsequently, 1 com...

journal_title：Genomics

authors： Tajima Y,Tashiro K,Camerini D

更新日期：1997-06-01 00:00:00

abstract：:The domestic dog is increasingly being recognized as a useful model for human disease. The aim of this study was to conduct the first detailed whole-genome comparison of human and dog using bidirectional heterologous chromosome painting (reciprocal Zoo-FISH) analysis. We used whole-chromosome paint probes produced fro...

journal_title：Genomics

authors： Breen M,Thomas R,Binns MM,Carter NP,Langford CF

更新日期：1999-10-15 00:00:00

abstract：:Uroporphyrinogen-III synthase (URO-S; EC 4.2.1.75), the fourth enzyme in the heme biosynthetic pathway, is responsible for the conversion of hydroxymethylbilane to the cyclic tetrapyrrole, uroporphyrinogen III. The deficient activity of URO-S is the enzymatic defect in congenital erythropoietic porphyria (CEP), an aut...

journal_title：Genomics

authors： Xu W,Kozak CA,Desnick RJ

更新日期：1995-04-10 00:00:00

abstract：:A population of chromosome segment substitution lines was developed using KDML105 as the recurrent parent and one of DH212 (IR68586-F2-CA-143) or DH103 (IR68586-F2-CA-31) as the donor parent. The donor parents are part of a doubled haploid population from a cross between CT9993, an upland japonica accession, and IR622...

journal_title：Genomics

authors： Shearman JR

更新日期：2019-10-31 00:00:00